|
G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr 9:91,837,139...91,839,736
|
|
G |
Cd8a |
CD8 subunit alpha |
|
ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 4:104,924,116...104,928,353
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:69,812,859...69,819,959
|
|
G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:17,580,380...17,601,181
|
|
G |
Ifna1 |
interferon, alpha 1 |
treatment |
ISO |
|
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 5:103,097,356...103,097,925
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr13:45,024,921...45,029,586
|
|
G |
Il12b |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:29,390,300...29,405,194
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Il21 |
interleukin 21 |
|
ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chr 2:120,117,105...120,127,012
|
|
G |
Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:38,272,003...38,277,549
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Klrk1 |
killer cell lectin like receptor K1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:163,079,887...163,092,434
|
|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr16:8,645,171...8,728,225
|
|
G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:127,952,161...127,956,230
|
|
G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:78,657,409...78,665,255
|
|
G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:101,866,124...101,879,278
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:41,026,079...41,085,577
|
|
G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr 4:159,212,320...159,237,069
|
|
G |
Serpinf1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chr10:60,250,198...60,262,593
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:90,324,312...90,340,627
|
|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:171,499,189...171,504,831
|
|
G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr16:53,554,916...53,572,321
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:85,161,247...85,174,882
|
|
G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:30,644,324...30,670,796
|
|
G |
Tlr8 |
toll-like receptor 8 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:30,708,714...30,733,104
|
|
G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:115,743,407...115,747,523
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:3,626,685...3,629,303
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:171,901,734...171,904,578
|
|
|
G |
Rhob |
ras homolog family member B |
|
IDA |
|
RGD |
PMID:1710770 |
RGD:704375 |
NCBI chr 6:31,363,752...31,365,926
|
|
|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:13,253,697...13,273,672
|
|
G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:13,285,702...13,313,329
|
|
|
G |
A4galt |
alpha 1,4-galactosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11482875 |
|
NCBI chr 7:114,368,525...114,392,872
|
|
G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 5:151,192,014...151,269,291
|
|
G |
Bbc3 |
Bcl-2 binding component 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18573879 |
|
NCBI chr 1:86,141,450...86,150,666
|
|
G |
Bcl2l2 |
Bcl2-like 2 |
|
ISO |
mRNA:increased expression:lymph node |
RGD |
PMID:28094768 |
RGD:14394511 |
NCBI chr15:28,346,449...28,361,627
|
|
G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Burkitt lymphoma |
ClinVar |
PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 PMID:33471991 PMID:36881271 More...
|
|
NCBI chr10:86,917,693...86,978,012
|
|
G |
Btk |
Bruton tyrosine kinase |
ameliorates treatment |
ISO |
Human cell line in a mouse model mRNA:increased expression:multiple (human) |
RGD |
PMID:28474336 PMID:30546948 |
RGD:124713565, RGD:124715474 |
NCBI chr X:102,016,070...102,055,448
|
|
G |
Calr |
calreticulin |
treatment |
ISO |
human cells and recombinant protein in a mouse model human cell line and recombinant protein in a mouse model |
RGD |
PMID:9858521 PMID:10961892 |
RGD:150521687, RGD:150521702 |
NCBI chr19:40,213,367...40,218,262
|
|
G |
Cct6b |
chaperonin containing TCP1 subunit 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr10:67,652,461...67,701,385
|
|
G |
Cd40 |
CD40 molecule |
treatment |
ISO |
human cell line in a mouse model |
RGD |
PMID:9192773 |
RGD:11520790 |
NCBI chr 3:174,209,113...174,224,592
|
|
G |
Cd79b |
CD79b molecule |
treatment |
ISO |
human cells in mouse model |
RGD |
PMID:17374736 |
RGD:151665154 |
NCBI chr10:91,739,134...91,742,312
|
|
G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr20:12,055,203...12,068,717
|
|
G |
Gna13 |
G protein subunit alpha 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr10:94,837,271...94,870,290
|
|
G |
Id3 |
inhibitor of DNA binding 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143595 PMID:23143597 |
|
NCBI chr 5:153,656,253...153,657,860
|
|
G |
Mir21 |
microRNA 21 |
treatment |
ISO |
|
RGD |
PMID:27991481 |
RGD:41404643 |
NCBI chr10:71,902,600...71,902,691
|
|
G |
Mir23b |
microRNA 23b |
treatment |
ISO |
|
RGD |
PMID:27991481 |
RGD:41404643 |
NCBI chr17:1,813,667...1,813,763
|
|
G |
Mllt11 |
MLLT11, transcription factor 7 cofactor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31587870 |
|
NCBI chr 2:185,484,791...185,493,961
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO ISS |
ClinVar Annotator: match by term: Burkitt lymphoma | ClinVar Annotator: match by term: MYC-related condition OMIM:113970 CTD Direct Evidence: marker/mechanism DNA:mutations:exons:multiple (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:8220424 PMID:25741868 PMID:27993330 PMID:32934698 PMID:8220424 PMID:8397370 More...
|
RGD:1601453, RGD:10059619 |
NCBI chr 7:95,483,105...95,488,031
|
|
G |
Pbx1 |
PBX homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1967982 PMID:17244677 |
|
NCBI chr13:80,278,766...80,588,563
|
|
G |
Pc |
pyruvate carboxylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 1:211,228,708...211,327,792
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 2:34,612,946...34,697,660
|
|
G |
Ret |
ret proto-oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 4:152,998,344...153,040,556
|
|
G |
Sall3 |
spalt-like transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr18:74,406,066...74,425,974
|
|
G |
Smarca4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 8:28,438,370...28,535,071
|
|
G |
Tcf3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1967982 PMID:17244677 |
|
NCBI chr 7:9,931,251...9,952,994
|
|
|
G |
Tmc6 |
transmembrane channel like 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
CTD ClinVar |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
|
|
NCBI chr10:102,982,059...102,999,509
|
|
G |
Tmc8 |
transmembrane channel-like 8 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr10:103,000,038...103,010,601
|
|
G |
Tnrc6c |
trinucleotide repeat containing adaptor 6C |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:102,908,958...102,979,543
|
|
|
G |
Tmc6 |
transmembrane channel like 6 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition |
ClinVar OMIM |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
|
|
NCBI chr10:102,982,059...102,999,509
|
|
G |
Tmc8 |
transmembrane channel-like 8 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 |
ClinVar |
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr10:103,000,038...103,010,601
|
|
|
G |
Tmc6 |
transmembrane channel like 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr10:102,982,059...102,999,509
|
|
G |
Tmc8 |
transmembrane channel-like 8 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
|
|
NCBI chr10:103,000,038...103,010,601
|
|
|
G |
Cib1 |
calcium and integrin binding 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 |
OMIM ClinVar |
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
|
|
NCBI chr 1:143,587,591...143,593,153
|
|
|
G |
Rhoh |
ras homolog family member H |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition |
OMIM ClinVar |
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840 |
|
NCBI chr14:42,694,860...42,725,690
|
|
|
G |
Il7 |
interleukin 7 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394 |
|
NCBI chr 2:96,142,523...96,186,282
|
|
|
G |
Aicda |
activation-induced cytidine deaminase |
|
ISO |
associated with malaria;mRNA:increased expression:B cell mRNA:increased expression:T cell, natural killer cell |
RGD |
PMID:25099163 PMID:21697063 |
RGD:32716377, RGD:32716387 |
NCBI chr 4:157,446,120...157,455,958
|
|
G |
Cd163 |
CD163 molecule |
|
ISO |
associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human) |
RGD |
PMID:21602260 |
RGD:40925915 |
NCBI chr 4:157,085,080...157,118,470
|
|
G |
Cd68 |
Cd68 molecule |
severity |
ISO |
associated with Hodgkin's Lymphoma;protein:increased expression:tumor (human) associated with Hodgkin's Lymphoma;protein:increased expression:tumor(human) |
RGD |
PMID:21602260 PMID:21071500 |
RGD:40925915, RGD:40925944 |
NCBI chr10:54,880,562...54,882,441
|
|
G |
Cd8a |
CD8 subunit alpha |
|
ISO |
associated with stomach cancer;mRNA:increased expression:stomach (human) |
RGD |
PMID:29155997 |
RGD:124715448 |
NCBI chr 4:104,924,116...104,928,353
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
no_association |
ISO |
DNA:missense mutation:cds:(rs755793) (human) |
RGD |
PMID:29446487 |
RGD:38500242 |
NCBI chr 1:194,175,703...194,280,914
|
|
G |
Foxp3 |
forkhead box P3 |
susceptibility |
ISO |
associated with adult T-cell leukemia; |
RGD |
PMID:18246047 |
RGD:38548918 |
NCBI chr X:17,580,380...17,601,181
|
|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human) |
RGD |
PMID:25041527 |
RGD:127285814 |
NCBI chr20:11,061,009...11,097,242
|
|
G |
Mir146a |
microRNA 146a |
exacerbates |
ISO |
associated with respiratory allergy;miRNA:increased expression:blood serum (human) |
RGD |
PMID:31322518 |
RGD:126925156 |
NCBI chr10:28,349,996...28,350,090
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
associated with stomach carcinoma;DNA:hypermethylation:promoter (human) |
RGD |
PMID:19339266 |
RGD:127285616 |
NCBI chr 1:240,043,707...240,110,330
|
|
G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
susceptibility |
ISO |
associated with infectious mononucleosis, Hodgkin's lymphoma;DNA:polymorphism: :HLA-DPB1*0301 (human) |
RGD |
PMID:11401923 |
RGD:150429800 |
NCBI chr20:4,775,598...4,779,590
|
|
G |
Tp73 |
tumor protein p73 |
|
ISO |
associated with stomach carcinoma;DNA:hypermethylation:promoter (human) |
RGD |
PMID:23829175 |
RGD:151347586 |
NCBI chr 5:169,903,801...169,988,075
|
|
|
G |
Cd28 |
Cd28 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis |
OMIM ClinVar |
|
|
NCBI chr 9:69,660,316...69,689,192
|
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:monocyte, neutrophil, serum: |
RGD |
PMID:11185989 |
RGD:11049152 |
NCBI chr 1:241,212,155...241,245,774
|
|
G |
Faslg |
Fas ligand |
|
ISO |
protein:increased expression:lymphocyte, serum: |
RGD |
PMID:11185989 |
RGD:11049152 |
NCBI chr13:76,680,885...76,706,042
|
|
G |
Foxp3 |
forkhead box P3 |
disease_progression |
ISO |
|
RGD |
PMID:23628056 |
RGD:38501103 |
NCBI chr X:17,580,380...17,601,181
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
|
RGD |
PMID:22537952 |
RGD:10450797 |
NCBI chr 2:198,338,005...198,346,007
|
|
G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
|
RGD |
PMID:22537952 |
RGD:10450797 |
NCBI chr20:12,856,068...12,873,020
|
|
G |
Il27 |
interleukin 27 |
|
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:33571934 |
RGD:126790542 |
NCBI chr 1:181,173,108...181,178,720
|
|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism:cds:HLA-DRB1*0101 (human) |
RGD |
PMID:21482926 |
RGD:40818406 |
NCBI chr20:4,548,664...4,558,237
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
|
RGD |
PMID:7964476 |
RGD:11035288 |
NCBI chr 1:50,043,323...50,050,168
|
|
|
G |
Cd68 |
Cd68 molecule |
|
ISO |
protein:increased expression:tumor (human) |
RGD |
PMID:22050913 |
RGD:40925916 |
NCBI chr10:54,880,562...54,882,441
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
mRNA:decreased expression:skin (human) |
RGD |
PMID:28359267 |
RGD:38500206 |
NCBI chr14:81,211,800...81,227,215
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25277525 |
|
NCBI chr 7:95,483,105...95,488,031
|
|
G |
Spa17 |
sperm autoantigenic protein 17 |
|
ISO |
mRNA,protein:increased expression:nucleus |
RGD |
PMID:31218705 |
RGD:27226803 |
NCBI chr 8:37,307,432...37,318,519
|
|
|
G |
Apobec3 |
apolipoprotein B mRNA editing enzyme catalytic subunit 3 |
disease_progression |
ISO |
associated with Arterivirus Infections |
RGD |
PMID:23725696 |
RGD:40902617 |
NCBI chr 7:111,433,789...111,453,032
|
|
G |
Cd40 |
CD40 molecule |
susceptibility |
ISO |
|
RGD |
PMID:12438641 |
RGD:11520795 |
NCBI chr 3:174,209,113...174,224,592
|
|
G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
|
RGD |
PMID:8642687 |
RGD:11520796 |
NCBI chr X:140,164,341...140,176,057
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:23415673 |
RGD:7364815 |
NCBI chr13:45,024,921...45,029,586
|
|
G |
Nfkbia |
NFKB inhibitor alpha |
|
ISO |
protein:decreased expression:lymph node (mouse) |
RGD |
PMID:10429205 |
RGD:127285021 |
NCBI chr 6:78,593,844...78,597,307
|
|
G |
Rnasel |
ribonuclease L |
|
ISO |
associated with Arterivirus Infections |
RGD |
PMID:23725696 |
RGD:40902617 |
NCBI chr13:68,446,641...68,460,804
|
|
|
G |
Adar |
adenosine deaminase, RNA-specific |
exacerbates |
ISO |
associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) |
RGD |
PMID:31882741 |
RGD:125097510 |
NCBI chr 2:175,138,391...175,178,280
|
|
G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 |
|
NCBI chr 9:67,747,109...67,806,699
|
|
G |
Ccna1 |
cyclin A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 |
|
NCBI chr 2:141,383,352...141,428,205
|
|
G |
Ccng1 |
cyclin G1 |
disease_progression |
ISO |
associated with cervix carcinoma; protein:increased expression:cervix (human) |
RGD |
PMID:16845792 |
RGD:2316022 |
NCBI chr10:25,678,503...25,684,876
|
|
G |
Cd274 |
CD274 molecule |
|
ISO |
associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell |
RGD |
PMID:23521696 |
RGD:40822817 |
NCBI chr 1:236,526,215...236,549,956
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix associated with Cervix Neoplasms;protein:increased expression:uterine cervix |
RGD |
PMID:16415792 PMID:16406113 |
RGD:2296057, RGD:2296058 |
NCBI chr 5:109,100,763...109,114,448
|
|
G |
Egfr |
epidermal growth factor receptor |
disease_progression |
ISO |
associated with squamous cell carcinoma |
RGD |
PMID:31430224 |
RGD:38599177 |
NCBI chr14:95,378,626...95,551,358
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) |
RGD |
PMID:25056374 |
RGD:38500237 |
NCBI chr14:81,211,800...81,227,215
|
|
G |
Foxp3 |
forkhead box P3 |
susceptibility |
ISO |
DNA:SNP::rs3761548(human) |
RGD |
PMID:31177386 |
RGD:38501104 |
NCBI chr X:17,580,380...17,601,181
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
DNA:deletion |
RGD |
PMID:16360200 |
RGD:2293831 |
NCBI chr 2:198,338,005...198,346,007
|
|
G |
Il1rl1 |
interleukin 1 receptor-like 1 |
|
ISO |
|
RGD |
PMID:30935248 |
RGD:39938848 |
NCBI chr 9:42,661,694...42,727,266
|
|
G |
Mir20a |
microRNA 20a |
|
ISO |
associated with oral squamous cell carcinoma |
RGD |
PMID:26781875 |
RGD:26884343 |
NCBI chr15:92,181,084...92,181,168
|
|
G |
Mir21 |
microRNA 21 |
|
ISO |
RNA:increased expression:cervical cell |
RGD |
PMID:26010154 |
RGD:41404529 |
NCBI chr10:71,902,600...71,902,691
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
no_association |
ISO |
DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) |
RGD |
PMID:23444906 |
RGD:38501058 |
NCBI chr 5:163,748,346...163,768,141
|
|
G |
Mx1 |
MX dynamin like GTPase 1 |
exacerbates |
ISO |
protein:increased expression:body wart (human) |
RGD |
PMID:28736973 |
RGD:126777683 |
NCBI chr11:36,799,659...36,825,209
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
associated with tonsil cancer;protein:increased expression:tonsil (human) associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human) |
RGD |
PMID:24616007 PMID:28945300 |
RGD:127285601 RGD:127285613 |
NCBI chr 1:240,043,707...240,110,330
|
|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
|
RGD |
PMID:12918070 PMID:12941545 PMID:19272325 |
RGD:2314694, RGD:2314693, RGD:2306228 |
NCBI chr20:4,548,664...4,558,237
|
|
G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
susceptibility |
ISO |
associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human) |
RGD |
PMID:17349874 |
RGD:150429811 |
NCBI chr20:4,775,598...4,779,590
|
|
G |
Tlr3 |
toll-like receptor 3 |
resistance |
ISO |
mRNA:increased expression:cervix epithelium (human) |
RGD |
PMID:20473890 |
RGD:5129102 |
NCBI chr16:53,554,916...53,572,321
|
|
G |
Tlr9 |
toll-like receptor 9 |
resistance |
ISO |
mRNA:increased expression:cervix epithelium (human) |
RGD |
PMID:20473890 |
RGD:5129102 |
NCBI chr 8:115,743,407...115,747,523
|
|
G |
Vamp7 |
vesicle-associated membrane protein 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 |
|
NCBI chr12:16,728,486...16,764,261
|
|
|
G |
Cd274 |
CD274 molecule |
|
ISO |
protein:increased expression: larynx |
RGD |
PMID:22322668 |
RGD:40822813 |
NCBI chr 1:236,526,215...236,549,956
|
|
G |
Foxp3 |
forkhead box P3 |
susceptibility |
ISO |
DNA:SNPs:promoter:rs5902434,rs2232365 (human) |
RGD |
PMID:28298239 |
RGD:38549360 |
NCBI chr X:17,580,380...17,601,181
|
|
G |
Nlrp1a |
NLR family, pyrin domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital |
ClinVar OMIM |
PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767 |
|
NCBI chr10:55,778,560...55,833,639
|
|
G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
|
RGD |
PMID:22322668 |
RGD:40822813 |
NCBI chr 9:101,866,124...101,879,278
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
severity |
ISO |
DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human) DNA:polymorphism: :HLA-DQB1*0602(human) |
RGD |
PMID:15336778 PMID:19861144 |
RGD:5147657, RGD:36174013 |
NCBI chr20:4,598,475...4,604,118
|
|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
severity |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) |
RGD |
PMID:15336778 |
RGD:5147657 |
NCBI chr20:4,548,664...4,558,237
|
|
G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
severity |
ISO |
DNA:polymorphism:cds:p.D637G(human) |
RGD |
PMID:14976605 |
RGD:5147844 |
NCBI chr20:4,658,171...4,668,543
|
|
|
G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:21715145 |
RGD:7483622 |
NCBI chr 9:91,837,139...91,839,736
|
|
G |
Clu |
clusterin |
|
ISO |
|
RGD |
PMID:11085517 |
RGD:8746700 |
NCBI chr15:40,161,068...40,200,315
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
protein:increased expression:skin (mouse) |
RGD |
PMID:24582960 |
RGD:126928134 |
NCBI chr 2:50,801,171...50,878,218
|
|
G |
Mir21 |
microRNA 21 |
ameliorates |
ISO |
|
RGD |
PMID:21646541 |
RGD:41404663 |
NCBI chr10:71,902,600...71,902,691
|
|
G |
Nrg1 |
neuregulin 1 |
|
ISO |
DNA:hypermethylation: |
RGD |
PMID:31892232 |
RGD:39456089 |
NCBI chr16:65,954,084...67,007,484
|
|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
protein:increased expression,altered expression:cytoplasm,membrane, nucleus: |
RGD |
PMID:24617037 |
RGD:8553046 |
NCBI chr 2:171,499,189...171,504,831
|
|
|
G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
|
ISO ISS |
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 OMIM:193670 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:35947323 PMID:36089616 PMID:12692554 More...
|
RGD:734860 |
NCBI chr13:42,630,383...42,634,288
|
|
|
G |
Atp7a |
ATPase copper transporting alpha |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:24550228 PMID:28492532 |
|
NCBI chr X:75,159,635...75,267,094
|
|
G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr X:70,850,981...70,997,330
|
|
G |
Cox7b |
cytochrome c oxidase subunit 7B |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:24550228 PMID:28492532 |
|
NCBI chr X:71,083,486...71,089,733
|
|
G |
Magt1 |
magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 PMID:25640679 PMID:25741868 PMID:25956530 PMID:26422833 PMID:27770395 PMID:28353193 PMID:28492532 PMID:31036665 PMID:31993868 PMID:32499645 PMID:32581362 PMID:33831577 More...
|
|
NCBI chr X:75,104,040...75,145,247
|
|
G |
Pgk1 |
phosphoglycerate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr X:75,336,988...75,352,962
|
|